E28D (p.Glu28Asp) variant of GNAI1 (P63096)
E28D (p.Glu28Asp) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 7-80135244-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- MetaLR 0.46
- MetaSVM -0.40
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available